- Install Git
- Create a GitHub account
- Open Terminal
/Applications/Utilities/Terminal.app
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# Download the raw CADD TSV and Tabix index (no annotations, just scores) | |
wget http://krishna.gs.washington.edu/download/CADD/v1.0/whole_genome_SNVs.tsv.gz | |
wget http://krishna.gs.washington.edu/download/CADD/v1.0/whole_genome_SNVs.tsv.gz.tbi | |
# it is big. 79Gb | |
ls -ltrh whole_genome_SNVs.tsv.gz | |
-rw-r--r-- 1 arq5x users 79G Sep 26 01:44 whole_genome_SNVs.tsv.gz | |
# for testing, let's play with the chr22 intervals | |
tabix whole_genome_SNVs.tsv.gz 22 | bgzip > whole_genome_SNVs.tsv.22.gz |
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# Load the raw training data and replace missing values with NA | |
training.data.raw <- read.csv('train.csv',header=T,na.strings=c("")) | |
# Output the number of missing values for each column | |
sapply(training.data.raw,function(x) sum(is.na(x))) | |
# Quick check for how many different values for each feature | |
sapply(training.data.raw, function(x) length(unique(x))) | |
# A visual way to check for missing data |
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# Set a seed | |
set.seed(500) | |
library(MASS) | |
data <- Boston | |
# Check that no data is missing | |
apply(data,2,function(x) sum(is.na(x))) | |
# Train-test random splitting for linear model |
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#!/bin/bash | |
if [ "$#" -ne 1 ]; then | |
echo -e "Incorrect number of parameters! Usage:\n index-gtf.sh <file.gtf(.gz)>" >&2 | |
exit 1 | |
fi | |
gtf="$1" | |
if [[ $gtf =~ \.gz$ ]]; then |
If you are on a Mac, substitute command
for control
. Don't type the + (it means press both keys at once).
-
Shift
+Enter
run selected cell or cells - if no cells below, insert a code cell below -
Ctrl
+B
toggle hide/show left sidebar -
Ctrl
+S
save and checkpoint -
Ctrl
+Shift
+S
save as
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*bcftools filter | |
*Filter variants per region (in this example, print out only variants mapped to chr1 and chr2) | |
qbcftools filter -r1,2 ALL.chip.omni_broad_sanger_combined.20140818.snps.genotypes.hg38.vcf.gz | |
*printing out info for only 2 samples: | |
bcftools view -s NA20818,NA20819 filename.vcf.gz | |
*printing stats only for variants passing the filter: | |
bcftools view -f PASS filename.vcf.gz |
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#!/usr/bin/env bash | |
set -Eeuo pipefail | |
trap cleanup SIGINT SIGTERM ERR EXIT | |
script_dir=$(cd "$(dirname "${BASH_SOURCE[0]}")" &>/dev/null && pwd -P) | |
usage() { | |
cat <<EOF | |
Usage: $(basename "${BASH_SOURCE[0]}") [-h] [-v] [-f] -p param_value arg1 [arg2...] |
Get Homebrew installed on your mac if you don't already have it
Install highlight. "brew install highlight". (This brings down Lua and Boost as well)
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